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Three siblings with Cerebrotendinous Xanthomatosis: a novel mutation in the CYP27A1 gene

Sunghwan Suh1, Hee Kyung Kim, Hyung-Doo Park

  • 1Division of Endocrinology and Metabolism, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, 50 Irwon-Dong, Gangnam-Gu, Seoul 135-710, Republic of Korea.

European Journal of Medical Genetics
|October 1, 2011
PubMed

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